Working Diagnosis:
1. Exostoses secondary to Hereditary Multiple Exostoses
2. Osteoarthritis.
Treatment:
He was referred for glenohumeral corticosteroid injection under fluoroscopy and sent to physical therapy for range of motion exercises.
Outcome:
At one-month follow-up, he had mild relief with the prescribed therapy, noting that the pain at times still reached a 7/10. Otherwise, he desired to continue with conservative care and was not interested in surgical intervention. The possibilities of viscosupplementation injection, Platelet-Rich Plasma injection, and surgical intervention were discussed.
Return to Activity and Follow-Up:
At follow-up phone call four months later he was mildly improved but was still having discomfort at night. He planned on returning to the clinic soon for a repeat steroid injection, but may ultimately need total shoulder arthroplasty.
Author's Comments:
Hereditary Multiple Exostoses/Osteochondromas are osteochondromas resulting from growth plate dysplasia. It occurs in 1 in 50,000 people in an autosomal dominant inheritance pattern from mutations on the EXT1 and EXT2 genes. They are usually diagnosed at 3 years of age, and most patients present by 12 years of age. The disease usually involves the appendicular skeleton. Clinical presentation varies and includes clinically evident lesions, skeletal deformities/shortening, and secondary mass effects on surrounding structures. Diagnosis is based on clinical and radiographic findings. Treatment ranges from observation to surgical excision. Genetic counseling should also be considered. Complications include malignant transformation in 1-2% of patients.
Editor's Comments:
Osteochondromas are often found incidently on imaging. They can be appear worrisome, but they are often asymptomatic. Almost all osteochondromas are benign, but malignant transformation is possible and occurs in about 1%. Further imaging and biopsy may be indicated for rapidly growing lesions or increasingly painful lesions1.
Multiple Osteochondromatosis is a disease of skeletal development that presents with many exostoses of the long bones and scapula, growth disturbances, abnormal tubulation of bones, and sometimes bowing of radius that can lead to ulnar deviation of hand. Treatment consists of supportive care, but surgical excision may be necessary when lesions impinge on surrounding structures.
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